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Year Number of Results
1988 1
1990 1
1991 1
1992 1
1993 1
1994 1
1995 1
1996 2
1998 3
1999 3
2000 5
2001 1
2002 1
2004 2
2006 1
2007 2
2008 2
2009 4
2010 2
2011 3
2012 3
2013 4
2014 4
2015 3
2016 4
2017 5
2018 7
2019 7
2020 3
2021 4
2022 4
2023 2

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77 results

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Page 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: maas sm. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: maas sm. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: maas sm. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: maas sm. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM. Verberne EA, et al. Among authors: maas sm. Int J Mol Sci. 2022 Jul 20;23(14):8001. doi: 10.3390/ijms23148001. Int J Mol Sci. 2022. PMID: 35887345 Free PMC article.
[Pregnancy during residency].
Maas SM, van 't Hoff BW, Rings EH, van der Waals FW, Büller HA. Maas SM, et al. Ned Tijdschr Geneeskd. 1992 Dec 19;136(51):2526-31. Ned Tijdschr Geneeskd. 1992. PMID: 1470257 Dutch.
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. Krzyzewska IM, et al. Among authors: maas sm. Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. Clin Epigenetics. 2019. PMID: 31685013 Free PMC article.
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.
Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. Kalish JM, et al. Among authors: maas sm. Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Clin Cancer Res. 2017. PMID: 28674120 Free PMC article. Review.
Variants in KAT6A and pituitary anomalies.
Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Among authors: maas sm. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.
77 results